Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype

Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype

Mutations in GABA<sub>A</sub> receptor subunit genes (<i>GABRs</i>) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in <i>GABRG2</i> and updates the pathophysiology and treatment de...

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Bibliographic Details
Main Authors: Gerald Nwosu, Shilpa B. Reddy, Heather Rose Mead Riordan, Jing-Qiong Kang
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:International Journal of Molecular Sciences
Subjects:
epilepsy
developmental epileptic encephalopathies
GABA<sub>A</sub> receptor
mutations
gene therapy
antisense oligonucleotides
Online Access:https://www.mdpi.com/1422-0067/23/17/9683

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